Once Upon A Gene

I’m joined by Christian Henry, CEO of PacBio, a company leading the way in high-accuracy long-read sequencing. We break down what that means in simple terms, how this technology is helping families solve their diagnostic odyssey, and why some genetic tests miss key information that PacBio can detect. Plus, if you've already had whole genome sequencing without finding an answer, Christian explains...

As caregivers, we give everything to our kids—but where does that leave us? Burnt out, exhausted, and running on fumes. If you’ve ever felt like you don’t even know where to start when it comes to your own health, this episode is for you. I’m talking with Fraser Bridgeman, a fellow CTNNB1 mom and a functional integrative health practitioner, about the small but powerful changes we can make to supp...

In this powerful episode of Once Upon a Gene, I sit down with James Griffin, author of Breaking Silence: Living With Sickle Cell Anemia. Diagnosed at just two years old, James spent much of his life keeping his condition a secret, fearing how others would perceive him. He faced excruciating pain, hospitalizations, and the daily challenges of living with a chronic illness—all while navigating schoo...

In this inspiring episode of Once Upon a Gene, I sit down with Samantha and Wesley Rogers, founders of Lottie’s Light Foundation, and proud parents of the incredible Lottie, who lives with a CERT1 mutation. The Rogers share the heartfelt story of how their journey with Lottie led to the creation of a foundation dedicated to empowering families, fostering connections, and encouraging others to find...

In this episode, I sit down with Natalie Richheimer, a genetic counselor at JScreen, to dig into the world of preconception and prenatal genetic testing. We explore the basics of carrier screening, how to interpret results, and the importance of genetic counseling for both new and experienced parents—especially those who already have a child with a rare disease. Natalie also sheds light on Variant...

Show Notes: Transforming Pediatric Rare Disease Research with Dr. Ramin Eskandari In this episode, I’m joined by Dr. Ramin Eskandari, a pediatric neurosurgeon at MUSC who is revolutionizing rare disease research through his innovative work with biorepositories. Dr. Eskandari shares how his dedication to helping children and families has driven him to create a system that collects and preserves val...

Links & Resources: Follow Their Journey on Social Media Facebook: Paxtons Pioneers Instagram: Paxtons_Pioneers KCAL News Story Watch the in-depth feature on their family’s advocacy here: KCAL Rare Disease Coverage

Chasing Glimmers, is all about finding the small, hopeful moments that shine through the darkest of times. Like you, Katie and I know how challenging the rare disease journey can be, but we also believe in the incredible power of connection, bravery and positivity. We'll share inspiring stories from the community, life lessons we've learned and explore how glimmers light our way forward. Let's cha...

Dear Friends, The holidays can be a beautiful time of connection, joy, and celebration—but for caregivers, it can also be a season that amplifies the weight we carry every day. The expectations, the comparisons, the logistics of making life work for our kids—it all feels louder somehow. This episode is my friendship letter to you, my fellow caregivers, during this holiday season. It’s for the days...

2024 DSF Biennial Family & Professional Conference June 20th to June 22nd. This three-day gathering united all those committed to improving the lives of individuals with Dravet syndrome – including families, caregivers, clinicians, researchers, and biopharmaceutical professionals. It provided a platform for fostering new relationships and collaborations among families and professionals alike. Reco...

Episode Highlights: Mindy Henderson, a powerful advocate for disability rights and the Director & Editor-In-Chief of MDA's Quest Media. Mindy shares her journey of breaking barriers in the skies, working tirelessly to make air travel more accessible for wheelchair users and the broader disability community. She delves into practical tips for navigating travel with a wheelchair-using child, explain...

ONCE UPON A GENE - EPISODE 133 The Unique Expertise of a Genetic Counselor - Helping Rare Disease Individuals and Families Navigate Through Complex Emotions and Circumstances Like Guilt, Grief, and Shame with Mary-Frances Garber Mary-Frances Garber is a Genetic Counselor who has a private practice where she offers support to patients and families affected by a rare disease diagnosis. We discuss em...

ONCE UPON A GENE - EPISODE 245 Finding Strength in Friendship - Building In-Person Connections for Special Needs Moms with Colorado Mama Tribe - Mariah Gillaspie Mariah Gillaspie is the mom of Abby and Emma, who both have a genetic condition called THAP12, and they're the only known patients in the world. Mariah is the Founder of Lightning and Love and an active rare disease advocate. Most recentl...

A collection of voicemails from rare disease parents who relate to you situation.

ONCE UPON A GENE - EPISODE 243 Chasing Glimmers - Electric Love Disability Retreats Chasing Glimmers is all about finding the small, hopeful moments that shine through the darkest of times. Like you, Katie and I know how challenging the rare disease journey can be, but we also believe in the incredible power of connection, bravery and positivity. We're sharing inspiring stories from the community,...

ONCE UPON A GENE - EPISODE 242 Choosing Friends as a Rare Disease Parent - Building a Supportive Circle with Genuine Connections I've been seeing so many online conversations around friendships lately and we've all experienced a ghost ship of friends or people who disappeared or didn't show up for us as we came into the rare disease world. It's an important topic to touch on since so many of us fa...

ONCE UPON A GENE - EPISODE 241 Chasing Glimmers - What's Glimmering with Katie Lloyd Chasing Glimmers, is all about finding the small, hopeful moments that shine through the darkest of times. Like you, Katie and I know how challenging the rare disease journey can be, but we also believe in the incredible power of connection, bravery and positivity. We'll share inspiring stories from the community,...

ONCE UPON A GENE - EPISODE 240 A Mother's Mission - Project Baby Lion, ASO Therapy and the TNP02 Foundation with Yiwei She Yiwei She is a powerhouse mom to little Leo, the Founder of the TNP02 Foundation, a remarkable and brilliant advocate, and she's nothing short of extraordinary.  EPISODE HIGHLIGHTS Can you tell us about Leo's diagnostic journey and how that inspired you to start the TNP02 Foun...

ONCE UPON A GENE - EPISODE 239 Navigating Physical and Emotional Stress and Noticing Where It Shows Up In Our Body As A Rare Disease Caregiver - With Christy Foster Joining me today is my sister, Christy Foster. We're talking about caregiver stress, stress-related pain, how and why it shows up, and how to cope. EPISODE HIGHLIGHTS How does chronic stress affect us physically? The muscle tissue is o...

ONCE UPON A GENE - EPISODE 238 Where the Glimmers Can Surface We were at our beloved park— the one we helped renovate to be inclusive and accessible, then made a trip to a nearby grocery store nearby. Ford loves automatic doors. The grocery store has the usual automatic doors at the entrance, but also has big black swinging doors at the rear of the store, where the employees pass back and forth as...

ONCE UPON A GENE - EPISODE 237 Join Us for The Global Genes Week In Rare The 2024 Global Genes Week in RARE is happening in Kansas City, MO from September 25-28th. This is a powerhouse week packed with three incredible advocacy events that you can't miss— the Rare Equity Forum, the Rare Advocacy Summit and the Rare Champions of Hope Awards ceremony. Why attend? This will be four days of community,...

ONCE UPON A GENE - EPISODE 236 Rare Disease Research - Insights from Charles River Labs with Roxana Redis and David Fischer Charles River Labs is a rare disease research and drug development powerhouse and their work leads to life-changing treatments. I'm joined by Roxana Redis and David Fischer to talk about Charles River Labs’ support, rare disease research and how patient advocacy organizations...

ONCE UPON A GENE - EPISODE 235 Rare Connections in NMOSD (Neuromyelitis Optics) - Finding Strength in Community and the Power in Asking for Help with Craig Klein My guest, Craig Klein, has been living with Neuromyelitis Optics Spectrum Disorder (NMOSD) for 8 years. He shares his challenges, strengths and about his journey of resilience.  EPISODE HIGHLIGHTS What has your diagnostic journey been lik...